Genetics II Non-Mendelian Inheritance Non-mendelian Genetics Mendelian Genetics • • • • • • • • Complete dominance Codominance Incomplete dominance Multiple alleles Pleiotropy Epistasis Polygenic inheritance Sex-related inheritance Pleiotropy (pleion, “more”) Ability of a gene to affect an organism in multiple ways Examples: – 40% of cats with white fur and blue eyes are deaf – Phenylketonuria in humans (PKU) • Lack of an enzyme that converts Phe Tyr • Mental retardation, reduced hair and skin pigmentation, eczema – Sickle-cell anemia • Problem with hemoglobin molecules misshapen RBC’s at low O2 concs kidney and bone damage Epistasis One gene affects expression of another • Effects of one gene are modified by one or several other genes called modifier genes • Gene whose phenotype is expressed epistatic • Examples: – Coat color in mammals – Color of wheat grains – Fruit color in squash – Bombay phenotype in ABO blood groups in man Phenotypes A O O Genotypes: AO OO OO Bombay Phenotype A AB O Bombay Genotype AA (Hh) AB (Hh) AB or AA (hh) Polygenic Inheritance Additive effects of two or more genes on a phenotypic character • Quantitative characters vary in a population along a continuum or gradation • Due to the presence of contributory (ABC) and non-contributory alleles (abc) • Expression can be affected by environmental factors • Example: – Skin pigmentation controlled by at least three separately inherited genes – Each dark skin allele contributes a unit of ‘darkness’ to the individual – AABBCC very dark – aabbcc very light Polygenic Inheritance Problem Solving Petal length of a plant ranges from 4mm to 12mm to 20mm. Out of 770 plants, only 3 of them have 4mm petals. 1. Give one genotype for a plant with 12 mm petals. 2. Give two possible genotypes for plants with 6 mm petals 3. What proportion of plants have 14 mm petals? 4. What is the phenotype of plants with 7 contributory alleles? 5. How many contributing alleles does a plant with 4mm petals have? Sex-related Inheritance expression of traits is affected by the sex of the individual • Sex is an inherited phenotypic character determined by the presence/absence of certain chromosomes • SRY (sex-determining region of Y) in humans 1. Sex-linked inheritance 2. Sex-limited inheritance 3. Sex-influenced inheritance 44 + XY 44 + XX Parents 22 + Sperm 22 + Y X 22 + XY Ova 44 + Zygotes 44 + XX (offspring) XY (a) The X-Y system 22 + XX 22 + X 76 + ZW 76 + ZZ (b) The X–0 system (c) The Z–W system 32 (Diploid) (d) The haplo-diploid system 16 (Haploid) Sex-linked Inheritance • Gene linkage – genes located on the same chromosome are inherited together • Sex-linkage – Sex chromosomes contain genes for many characters unrelated to sex – X-linked/Y-linked gene (1) Father affected with the disorder Xa, Mother is homozygous dominant (2) Carrier mates with a male of normal phenotype (3) Carrier mates with a male with the disorder Examples of X-linked alleles Recessive alleles • Color-blindness • Duchenne muscular dystrophy • Hemophilia • Testicular feminization Dominant traits • Hypophosphatemia Mammalian females • One of the two X chromosomes is randomly inactivated • If female is heterozygous for a gene located on the X chromosome, she is a mosaic Two cell populations in adult cat: Active X Early embryo: X chromosomes Cell division and X Inactive X chromosome Inactive X inactivation Allele for black fur Active X Orange fur Black fur Examples of Y-linked (Holandric) Inheritance • Transmission of genes from father to son – Testis-determining factor (TDF/SRY gene) – hypertrichosis Sex-limited Inheritance • involves autosomal genes that are expressed only in either males or females • resulting in a part or function of the body that is present in one sex but not the other • e.g. milk production cryptorchidism feathers in domestic fowl Genotype HH Hh Hh Female hen-feathered hen-feathered hen-feathered Male hen-feathered hen-feathered rooster-feathered Sex-influenced Inheritance • dominant in one sex but recessive in the other • autosomal • difference in expression due to the hormonal difference between the sexes – in heterozygotes, the expression of the trait is affected by sex hormones – homozygotes unaffected and express the trait regardless of the hormone produced e.g. pattern baldness* gene for hair growth pattern has 2 alleles: one that produces hair all over the head and another that causes pattern baldness - the baldness allele is dominant in males but recessive in females - a heterozygous male is bald, but a heterozygous female is not Genotype Male (dominant) Female (recessive) b1b1 bald bald b1b2 bald not bald b2b2 not bald not bald